ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3426G>A (p.Thr1142=) (rs747771350)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227949 SCV000283802 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410566 SCV000488906 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491276 SCV000580182 likely benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing
Color RCV000491276 SCV000685400 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590286 SCV000695863 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000758626 SCV000887383 likely benign Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH6 NM_000179.2:c.3426G>A has a 0.9% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214.

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